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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 5-153491624-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=153491624&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 153491624,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000285900.10",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.82+654C>T",
"hgvs_p": null,
"transcript": "NM_000827.4",
"protein_id": "NP_000818.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": "ENST00000285900.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.82+654C>T",
"hgvs_p": null,
"transcript": "ENST00000285900.10",
"protein_id": "ENSP00000285900.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": "NM_000827.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.82+654C>T",
"hgvs_p": null,
"transcript": "ENST00000340592.10",
"protein_id": "ENSP00000339343.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "n.223+1787C>T",
"hgvs_p": null,
"transcript": "ENST00000481559.6",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.82+654C>T",
"hgvs_p": null,
"transcript": "ENST00000706733.1",
"protein_id": "ENSP00000516520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 947,
"cds_start": -4,
"cds_end": null,
"cds_length": 2844,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.24+292C>T",
"hgvs_p": null,
"transcript": "NM_001364166.2",
"protein_id": "NP_001351095.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.24+292C>T",
"hgvs_p": null,
"transcript": "ENST00000706734.1",
"protein_id": "ENSP00000516521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 915,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3437,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.82+654C>T",
"hgvs_p": null,
"transcript": "NM_001114183.2",
"protein_id": "NP_001107655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 906,
"cds_start": -4,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.82+654C>T",
"hgvs_p": null,
"transcript": "NM_001364165.2",
"protein_id": "NP_001351094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 850,
"cds_start": -4,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
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"cdna_length": 5416,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.-126+292C>T",
"hgvs_p": null,
"transcript": "NM_001258023.1",
"protein_id": "NP_001244952.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 1,
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"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.-126+292C>T",
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"transcript": "NM_001364167.2",
"protein_id": "NP_001351096.1",
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},
{
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],
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"gene_symbol": "GRIA1",
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"transcript": "ENST00000521843.6",
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],
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"gene_symbol": "GRIA1",
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],
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"gene_symbol": "GRIA1",
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},
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],
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},
{
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],
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"gene_symbol": "GRIA1",
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},
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],
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"transcript": "ENST00000520353.6",
"protein_id": "ENSP00000516539.1",
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},
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],
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"gene_symbol": "GRIA1",
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"hgvs_c": "n.327+654C>T",
"hgvs_p": null,
"transcript": "ENST00000474198.1",
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},
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 1,
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"gene_symbol": "GRIA1",
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"hgvs_c": "n.136+292C>T",
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},
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},
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],
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],
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"intron_rank": 1,
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},
{
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"protein_coding": true,
"strand": true,
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],
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"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"hgvs_c": "c.22+1787C>T",
"hgvs_p": null,
"transcript": "XM_047417128.1",
"protein_id": "XP_047273084.1",
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}
],
"gene_symbol": "GRIA1",
"gene_hgnc_id": 4571,
"dbsnp": "rs472792",
"frequency_reference_population": 0.000006592827,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000659283,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.25999999046325684,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.26,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.06,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000285900.10",
"gene_symbol": "GRIA1",
"hgnc_id": 4571,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR,AD,Unknown",
"hgvs_c": "c.82+654C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}